Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

Chang, Xiao; Li, Dong; Tian, Lifeng; Liu, Yichuan; March, Michael; Wang, Tiancheng; Hou, Cuiping; Pellegrino, Renata; Levy, Richard; Jen, Melinda; Soccio, Raymond; Sleiman, Patrick; Hakonarson, Hakon; Castelo-Soccio, Leslie

Chang, Xiao; Li, Dong; Tian, Lifeng; Liu, Yichuan; March, Michael; Wang, Tiancheng; Hou, Cuiping; Pellegrino, Renata; Levy, Richard; Jen, Melinda; Soccio, Raymond; Sleiman, Patrick; Hakonarson, Hakon; Castelo-Soccio, Leslie.

Afiliación

Chang X; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Li D; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Tian L; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Liu Y; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
March M; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Wang T; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Hou C; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Pellegrino R; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
Levy R; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
Jen M; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
Soccio R; Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
Sleiman P; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.
Hakonarson H; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.
Castelo-Soccio L; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address: castelosocciol@email.chop.edu.

J Pediatr ; 194: 248-252.e2, 2018 03.

Article en En | MEDLINE | ID: mdl-29269196

ABSTRACT

ABSTRACT

In 1964, Baird described a family with adermatoglyphia, facial milia, and skin fragility. Using whole exome sequencing, genotyping, and Sanger sequencing, we identified a 116-kb heterozygous deletion involving exons 1-9 of SMARCAD1 in descendants of this kindred. This contrasts with point mutations within exon 9 in all other reported families.

Asunto(s)

ADN Helicasas/genética; Displasia Ectodérmica/genética; Uñas Malformadas/genética; Enfermedades Cutáneas Genéticas/genética; Femenino; Técnicas de Genotipaje/métodos; Heterocigoto; Secuenciación de Nucleótidos de Alto Rendimiento/métodos; Humanos; Recién Nacido; Masculino; Linaje; Eliminación de Secuencia; Secuenciación del Exoma/métodos

Palabras clave

fingerprints; genodermatoses; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Displasia Ectodérmica / ADN Helicasas / Uñas Malformadas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Año: 2018 Tipo del documento: Article País de afiliación: Panamá

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