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A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Am J Med Genet A. 2016 Jan; 170A(1):11-8.AJ

Abstract

PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder.

Authors+Show Affiliations

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.Community Perinatology Medical Group, Fresno, California.Genetic Medicine Central California, Fresno, California.Community Perinatology Medical Group, Fresno, California.Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.Genetic Medicine Central California, Fresno, California. Department of Pediatrics, University of California, San Francisco, California.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26373900

Citation

Marcadier, Julien L., et al. "A Novel Mutation in Two Hmong Families Broadens the Range of STRA6-related Malformations to Include Contractures and Camptodactyly." American Journal of Medical Genetics. Part A, vol. 170A, no. 1, 2016, pp. 11-8.
Marcadier JL, Mears AJ, Woods EA, et al. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Am J Med Genet A. 2016;170A(1):11-8.
Marcadier, J. L., Mears, A. J., Woods, E. A., Fisher, J., Airheart, C., Qin, W., Beaulieu, C. L., Dyment, D. A., Innes, A. M., & Curry, C. J. (2016). A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. American Journal of Medical Genetics. Part A, 170A(1), 11-8. https://doi.org/10.1002/ajmg.a.37389
Marcadier JL, et al. A Novel Mutation in Two Hmong Families Broadens the Range of STRA6-related Malformations to Include Contractures and Camptodactyly. Am J Med Genet A. 2016;170A(1):11-8. PubMed PMID: 26373900.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. AU - Marcadier,Julien L, AU - Mears,Alan J, AU - Woods,Elizabeth A, AU - Fisher,Jamie, AU - Airheart,Cory, AU - Qin,Wen, AU - Beaulieu,Chandree L, AU - Dyment,David A, AU - Innes,A Micheil, AU - Curry,Cynthia J, AU - ,, Y1 - 2015/09/16/ PY - 2015/02/03/received PY - 2015/08/13/accepted PY - 2015/9/17/entrez PY - 2015/9/17/pubmed PY - 2016/10/14/medline KW - Matthew-Wood syndrome KW - PDAC syndrome KW - STRA6 KW - anophthalmia/microphthalmia KW - contractures SP - 11 EP - 8 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 170A IS - 1 N2 - PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26373900/A_novel_mutation_in_two_Hmong_families_broadens_the_range_of_STRA6_related_malformations_to_include_contractures_and_camptodactyly_ L2 - https://doi.org/10.1002/ajmg.a.37389 DB - PRIME DP - Unbound Medicine ER -