Genetic analysis of three families affected with split-hand/split-foot malformation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 476-480, 2017.
Article
en Zh
| WPRIM
| ID: wpr-335101
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).</p><p><b>METHODS</b>Peripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.</p><p><b>RESULTS</b>Microarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.</p><p><b>CONCLUSION</b>The genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.</p>
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Linaje
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Cromosomas Humanos Par 10
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Deformidades Congénitas del Pie
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Deformidades Congénitas de la Mano
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Pruebas Genéticas
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Deformidades Congénitas de las Extremidades
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Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Article