Interstitial Lung Disease in Rare Congenital Syndromes

1 Griese M. Chronic interstitial lung disease in children. Eur Respir Rev. 2018;27(147):170100. doi:10.1183/16000617.0100-2017. GrieseM Chronic interstitial lung disease in children Eur Respir Rev 2018 27 147 170100 10.1183/16000617.0100-2017 29436403 Open DOISearch in Google Scholar

2 Fan LL. Evaluation and therapy of chronic interstitial pneumonitis in children. Curr Opin Pediatr. 1994;6(3):248–54. doi:10.1097/00008480-199406000-00004. FanLL Evaluation and therapy of chronic interstitial pneumonitis in children Curr Opin Pediatr 1994 6 3 248 54 10.1097/00008480-199406000-00004 8061733 Open DOISearch in Google Scholar

3 Fan LL, Deterding RR, Langston C. Pediatric interstitial lung disease revisited. Pediatr Pulmonol. 2004;38(5):369–78. doi:10.1002/ppul.20114. FanLL DeterdingRR LangstonC Pediatric interstitial lung disease revisited Pediatr Pulmonol 2004 38 5 369 78 10.1002/ppul.20114 15376335 Open DOISearch in Google Scholar

4 Popler J, Lesnick B, Dishop MK, Deterding RR. New coding in the international classification of diseases, ninth revision, for children's interstitial lung disease. Chest. 2012;142(3):774–80. doi:10.1378/chest.12-0492. PoplerJ LesnickB DishopMK DeterdingRR New coding in the international classification of diseases, ninth revision, for children's interstitial lung disease Chest 2012 142 3 774 80 10.1378/chest.12-0492 22948581 Open DOISearch in Google Scholar

5 Nathan N, Berdah L, Borensztajn K, Clement A. Chronic interstitial lung diseases in children: diagnosis approaches. Expert Rev Respir Med. 2018;12(12):1051–60. doi:10.1080/17476348.2018.1538795. NathanN BerdahL BorensztajnK ClementA Chronic interstitial lung diseases in children: diagnosis approaches Expert Rev Respir Med 2018 12 12 1051 60 10.1080/17476348.2018.1538795 30345849 Open DOISearch in Google Scholar

6 Dinwiddie R, Sharief N, Crawford O. Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. Pediatr Pulmonol. 2002;34(1):23–9. doi:10.1002/ppul.10125. DinwiddieR ShariefN CrawfordO Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland Pediatr Pulmonol 2002 34 1 23 9 10.1002/ppul.10125 12112793 Open DOISearch in Google Scholar

7 Griese M, Haug M, Brasch F, Freihorst A, Lohse P, von Kries R, et al. Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany. Orphanet J Rare Dis. 2009;4:26. doi:10.1186/1750-1172-4-26. GrieseM HaugM BraschF FreihorstA LohseP von KriesR Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany Orphanet J Rare Dis 2009 4 26 10.1186/1750-1172-4-26 280010520003372 Open DOISearch in Google Scholar

8 Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47(6):654–60. doi:10.1038/ng.3279. WatkinLB JessenB WiszniewskiW VeceTJ JanM ShaY COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis Nat Genet 2015 47 6 654 60 10.1038/ng.3279 451366325894502 Open DOISearch in Google Scholar

9 Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, et al. Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Res. 2018;4(2):00017–2018. doi:10.1183/23120541.00017-2018. TsuiJL EstradaOA DengZ WangKM LawCS ElickerBM Analysis of pulmonary features and treatment approaches in the COPA syndrome ERJ Open Res 2018 4 2 00017 2018 10.1183/23120541.00017-2018 601974129977900 Open DOISearch in Google Scholar

10 Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary fibrosis in hermansky-pudlak syndrome. Ann Am Thorac Soc. 2016;13(10):1839–46. doi:10.1513/AnnalsATS.201603-186FR. VicaryGW VergneY Santiago-CornierA YoungLR RomanJ Pulmonary fibrosis in hermansky-pudlak syndrome Ann Am Thorac Soc 2016 13 10 1839 46 10.1513/AnnalsATS.201603-186FR 546615827529121 Open DOISearch in Google Scholar

11 Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, et al. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. J Med Genet. 2017;54(3):157–65. doi:10.1136/jmedgenet-2016-104143. BalasubramanianM LordH LevesqueS GuturuH ThuriotF SillonG Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene J Med Genet 2017 54 3 157 65 10.1136/jmedgenet-2016-104143 27738187 Open DOISearch in Google Scholar

12 Du H, Guo Y, Ma D, Tang K, Cai D, Luo Y, et al. A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. Medicine (Baltimore). 2018;97(19):e0724. doi:10.1097/MD.0000000000010724. DuH GuoY MaD TangK CaiD LuoY A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita Medicine (Baltimore) 2018 97 19 e0724 10.1097/MD.0000000000010724 595942329742735 Open DOISearch in Google Scholar

13 Savage SA. Dyskeratosis congenita. 2009 Nov 12 [Updated 2016 May 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. SavageSA Dyskeratosis congenita 2009 Nov 12 [Updated 2016 May 26]. In: AdamMP ArdingerHH PagonRA WallaceSE BeanLJH StephensK AmemiyaA editors. GeneReviews® [Internet] Seattle (WA) University of Washington, Seattle 1993–2018. 10.1016/j.hoc.2009.01.003270284719327580 Search in Google Scholar

14 Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, et al. Heterogeneity of lung disease associated with NK2 homeo-box 1 mutations. Respir Med. 2017;129:16–23. doi:10.1016/j.rmed.2017.05.014. NattesE LejeuneS CarsinA BorieR GibertiniI BalinottiJ Heterogeneity of lung disease associated with NK2 homeo-box 1 mutations Respir Med 2017 129 16 23 10.1016/j.rmed.2017.05.014 28732825 Open DOISearch in Google Scholar

15 Sun Y, Hu G, Luo J, Fang D, Yu Y, Wang X, et al. Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. J Hum Genet. 2017;62(6):647–51. doi:10.1038/jhg.2017.10. SunY HuG LuoJ FangD YuY WangX Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia J Hum Genet 2017 62 6 647 51 10.1038/jhg.2017.10 28148924 Open DOISearch in Google Scholar

16 Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, et al. Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island. Am J Hum Genet. 2015;96(5):826–31. doi:10.1016/j.ajhg.2015.03.010. HadchouelA WielandT GrieseM BaruffiniE Lorenz-DepiereuxB EnaudL Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island Am J Hum Genet 2015 96 5 826 31 10.1016/j.ajhg.2015.03.010 457027725913036 Open DOISearch in Google Scholar

17 Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, et al. Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am J Hum Genet. 2018;103(1):100–14. doi:10.1016/j.ajhg.2018.06.006. XuZ LoWS BeckDB SchuchLA OláhováM KopajtichR Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function Am J Hum Genet 2018 103 1 100 14 10.1016/j.ajhg.2018.06.006 603528929979980 Open DOISearch in Google Scholar

18 Krenke K, Szczałuba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, et al. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clin Genet. 2019;96(5):468–72. doi:10.1111/cge.13614. KrenkeK SzczałubaK BieleckaT RydzaniczM LangeJ KoppoluA FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects Clin Genet 2019 96 5 468 72 10.1111/cge.13614 31355908 Open DOISearch in Google Scholar

19 Escobar V, Weaver DD. Aarskog syndrome. New findings and genetic analysis. JAMA. 1978;240(24):2638–41. doi:10.1001/jama.240.24.2638. EscobarV WeaverDD Aarskog syndrome. New findings and genetic analysis JAMA 1978 240 24 2638 41 10.1001/jama.240.24.2638 712980 Open DOISearch in Google Scholar

20 Taveira-DaSilva AM, Markello TC, Kleiner DE, Jones AM, Groden C, Macnamara E, et al. Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. J Med Genet. 2019;56(11):778–82. doi:10.1136/jmedgenet-2018-105560. Taveira-DaSilvaAM MarkelloTC KleinerDE JonesAM GrodenC MacnamaraE Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features J Med Genet 2019 56 11 778 82 10.1136/jmedgenet-2018-105560 686040330385646 Open DOISearch in Google Scholar

21 Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016;127(8):997–1006. doi:10.1182/blood-2015-09-671636. AmmannS SchulzA Krägeloh-MannI DieckmannNM NiethammerK FuchsS Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome Blood 2016 127 8 997 1006 10.1182/blood-2015-09-671636 Open DOISearch in Google Scholar

22 Huizing M, Malicdan MCV, Gochuico BR, Gahl WA. Hermansky-Pudlak syndrome. 2000 Jul 24 [Updated 2017 Oct 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. HuizingM MalicdanMCV GochuicoBR GahlWA Hermansky-Pudlak syndrome 2000 Jul 24 [Updated 2017 Oct 26]. In: AdamMP ArdingerHH PagonRA WallaceSE BeanLJH StephensK editors. GeneReviews® [Internet] Seattle (WA) University of Washington, Seattle 1993–2019. Search in Google Scholar

23 Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998;338(18):1258–64. doi:10.1056/NEJM199804303381803. GahlWA BrantlyM Kaiser-KupferMI IwataF HazelwoodS ShotelersukV Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) N Engl J Med 1998 338 18 1258 64 10.1056/NEJM199804303381803 Open DOISearch in Google Scholar

24 Witkop CJ, Quevedo WC, Fitzpatrick TB, King RA. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DL, editors. The metabolic and molecular basis of inherited disease. 6th ed. Vol 2. New York, NY: McGraw-Hill; 1989. p. 2905–47. WitkopCJ QuevedoWC FitzpatrickTB KingRA Albinism In: ScriverCR BeaudetAL SlyWS ValleDL editors. The metabolic and molecular basis of inherited disease 6th ed. 2 New York, NY McGraw-Hill 1989 2905 47 10.1016/0738-081X(89)90059-X Search in Google Scholar

25 Chitayat D, Haj-Chahine S, Stalker HJ, Azouz EM, Côté A, Halal F. Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome? Am J Med Genet. 1993;45(1):1–4. doi:10.1002/ajmg.1320450103. ChitayatD Haj-ChahineS StalkerHJ AzouzEM CôtéA HalalF Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome? Am J Med Genet 1993 45 1 1 4 10.1002/ajmg.1320450103 8418638 Open DOISearch in Google Scholar

26 Milgrom H, Stoll HL Jr, Crissey JT. Dyskeratosis congenita. A case with new features. Arch Dermatol. 1964;89:345–9. doi:10.1001/archderm.1964.01590270031007. PMID: 14096348. MilgromH StollHLJr CrisseyJT Dyskeratosis congenita. A case with new features Arch Dermatol 1964 89 345 9 10.1001/archderm.1964.01590270031007 PMID: 14096348. 14096348 Open DOISearch in Google Scholar

27 Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006;107(7):2680–5. doi:10.1182/blood-2005-07-2622. VulliamyTJ MarroneA KnightSW WalneA MasonPJ DokalI Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation Blood 2006 107 7 2680 5 10.1182/blood-2005-07-2622 16332973 Open DOISearch in Google Scholar

28 Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica. 2012;97(3):353–9. doi:10.3324/haematol.2011.055269. AlterBP RosenbergPS GiriN BaerlocherGM LansdorpPM SavageSA Telomere length is associated with disease severity and declines with age in dyskeratosis congenita Haematologica 2012 97 3 353 9 10.3324/haematol.2011.055269 329158822058220 Open DOISearch in Google Scholar

29 Revesz T, Fletcher S, al Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet. 1992;29(9):673–5. doi:10.1136/jmg.29.9.673. ReveszT FletcherS al GazaliLI DeBuseP Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992 29 9 673 5 10.1136/jmg.29.9.673 10161051404302 Open DOISearch in Google Scholar

30 Patel NJ, Jankovic J. NKX2-1-related disorders. 2014 Feb 20 [Updated 2016 Jul 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. PatelNJ JankovicJ NKX2-1-related disorders 2014 Feb 20 [Updated 2016 Jul 29]. In: AdamMP ArdingerHH PagonRA WallaceSE BeanLJH StephensK editors. GeneReviews® [Internet] Seattle (WA) University of Washington, Seattle 1993–2018. Search in Google Scholar

31 Villafuerte B, Natera-de-Benito D, González A, Mori MA, Palomares M, Nevado J, et al. The Brain-Lung-Thyroid syndrome (BLTS): a novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018;61(7):393–8. doi:10.1016/j.ejmg.2018.02.007. VillafuerteB Natera-de-BenitoD GonzálezA MoriMA PalomaresM NevadoJ The Brain-Lung-Thyroid syndrome (BLTS): a novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency Eur J Med Genet 2018 61 7 393 8 10.1016/j.ejmg.2018.02.007 29477862 Open DOISearch in Google Scholar

32 Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry. 2013;84(11):1247–9. doi:10.1136/jnnp-2013-305049. GonzalezM McLaughlinH HouldenH GuoM Yo-TsenL HadjivassiliousM Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 J Neurol Neurosurg Psychiatry 2013 84 11 1247 9 10.1136/jnnp-2013-305049 379603223729695 Open DOISearch in Google Scholar

33 Hyun YS, Park HJ, Heo SH, Yoon BR, Nam SH, Kim SB, et al. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. Clin Genet. 2014;86(6):592–4. doi:10.1111/cge.12327. HyunYS ParkHJ HeoSH YoonBR NamSH KimSB Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy Clin Genet 2014 86 6 592 4 10.1111/cge.12327 24354524 Open DOISearch in Google Scholar

34 Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat. 2018;39(6):834–40. doi:10.1002/humu.23424. AntonellisA OprescuSN GriffinLB HeiderA AmalfitanoA InnisJW Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease Hum Mutat 2018 39 6 834 40 10.1002/humu.23424 599207129573043 Open DOISearch in Google Scholar

35 Zadjali F, Al-Yahyaee A, Al-Nabhani M, Al-Mubaihsi S, Gujjar A, Raniga S, et al. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. Hum Mutat. 2018;39(10):1355–9. doi:10.1002/humu.23595. ZadjaliF Al-YahyaeeA Al-NabhaniM Al-MubaihsiS GujjarA RanigaS Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease Hum Mutat 2018 39 10 1355 9 10.1002/humu.23595 30014610 Open DOISearch in Google Scholar

36 Orrico A, Galli L, Clayton-Smith J, Fryns JP. Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015. Eur J Hum Genet. 2015;23(4):558. doi:10.1038/ejhg.2014.178. OrricoA GalliL Clayton-SmithJ FrynsJP Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015 Eur J Hum Genet 2015 23 4 558 10.1038/ejhg.2014.178 466750225227149 Open DOISearch in Google Scholar

37 Ahmed A, Mufeed A, Ramachamparambathu AK, Hasoon U. Identifying Aarskog syndrome. J Clin Diagn Res. 2016;10(12):ZD09-11. doi:10.7860/JCDR/2016/22180.8982. AhmedA MufeedA RamachamparambathuAK HasoonU Identifying Aarskog syndrome J Clin Diagn Res 2016 10 12 ZD09-11. 10.7860/JCDR/2016/22180.8982 529658628209013 Open DOISearch in Google Scholar