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A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
Am J Med Genet A. 2013 Feb; 161A(2):237-43.AJ

Abstract

The family observed in this study included affected males and asymptomatic females. The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild-to-moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia. No chromosomal alterations or copy number variations were found in the index case. The genetic linkage analysis, which focused on the X chromosome, and the haplotype analysis detected a ~15.74 Mb candidate region located at Xp11.4-p11.21 with a LOD score of 4.8. Additionally, half of the mothers showed skewed X-inactivation, while the other mothers exhibited random inactivation patterns. The candidate region includes 28 protein-encoding genes that have not yet been implicated in human disorders. We speculate that the observed phenotype is compatible with a monogenic disorder in which the mutant gene plays a significant role during embryonic development. Based on the patients' clinical features, image studies, pedigree, chromosome location, and X-inactivation studies in the mothers, we propose that this family has a novel, specific syndrome with an X-linked recessive mode of inheritance.

Authors+Show Affiliations

Departamento de Genética, Facultad de Medicina y Hospital Universitario José E González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

23307567

Citation

Barboza-Cerda, María C., et al. "A Novel Phenotype Characterized By Digital Abnormalities, Intellectual Disability, and Short Stature in a Mexican Family Maps to Xp11.4-p11.21." American Journal of Medical Genetics. Part A, vol. 161A, no. 2, 2013, pp. 237-43.
Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, et al. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. Am J Med Genet A. 2013;161A(2):237-43.
Barboza-Cerda, M. C., Campos-Acevedo, L. D., Rangel, R., Martínez-de-Villarreal, L. E., & Déctor, M. A. (2013). A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. American Journal of Medical Genetics. Part A, 161A(2), 237-43. https://doi.org/10.1002/ajmg.a.35743
Barboza-Cerda MC, et al. A Novel Phenotype Characterized By Digital Abnormalities, Intellectual Disability, and Short Stature in a Mexican Family Maps to Xp11.4-p11.21. Am J Med Genet A. 2013;161A(2):237-43. PubMed PMID: 23307567.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. AU - Barboza-Cerda,María C, AU - Campos-Acevedo,Luis D, AU - Rangel,Roberto, AU - Martínez-de-Villarreal,Laura E, AU - Déctor,Miguel A, Y1 - 2013/01/10/ PY - 2012/06/22/received PY - 2012/10/08/accepted PY - 2013/1/12/entrez PY - 2013/1/12/pubmed PY - 2013/7/3/medline SP - 237 EP - 43 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 161A IS - 2 N2 - The family observed in this study included affected males and asymptomatic females. The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild-to-moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia. No chromosomal alterations or copy number variations were found in the index case. The genetic linkage analysis, which focused on the X chromosome, and the haplotype analysis detected a ~15.74 Mb candidate region located at Xp11.4-p11.21 with a LOD score of 4.8. Additionally, half of the mothers showed skewed X-inactivation, while the other mothers exhibited random inactivation patterns. The candidate region includes 28 protein-encoding genes that have not yet been implicated in human disorders. We speculate that the observed phenotype is compatible with a monogenic disorder in which the mutant gene plays a significant role during embryonic development. Based on the patients' clinical features, image studies, pedigree, chromosome location, and X-inactivation studies in the mothers, we propose that this family has a novel, specific syndrome with an X-linked recessive mode of inheritance. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23307567/A_novel_phenotype_characterized_by_digital_abnormalities_intellectual_disability_and_short_stature_in_a_Mexican_family_maps_to_Xp11_4_p11_21_ L2 - https://doi.org/10.1002/ajmg.a.35743 DB - PRIME DP - Unbound Medicine ER -