Abstract | BACKGROUND: METHODS: Whole-exome sequencing was performed in two siblings with congenital hypotonia. Detailed phenotyping data were compared with previously reported cases. RESULTS: A novel, heterozygous compound mutation of CNTNAP1 was identified in both siblings. We also reviewed 17 patients harboring 10 distinct mutations from previously published studies. All patients presented with severe hypotonia, respiratory distress, and multiple cranial nerve palsies at birth. Six of 19 patients survived beyond infancy and required chronic mechanical ventilation. Seizures were common in the surviving patients. CONCLUSIONS:
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Authors | Harry Lesmana, Marissa Vawter Lee, Seyed Ali Hosseini, T Andrew Burrow, Barbara Hallinan, Kevin Bove, Mark Schapiro, Robert J Hopkin |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 93
Pg. 43-49
(04 2019)
ISSN: 1873-5150 [Electronic] United States |
PMID | 30686628
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright © 2018 Elsevier Inc. All rights reserved. |
Chemical References |
- CNTNAP1 protein, human
- Cell Adhesion Molecules, Neuronal
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Topics |
- Cell Adhesion Molecules, Neuronal
(genetics)
- Charcot-Marie-Tooth Disease
(complications, genetics)
- Cranial Nerve Diseases
(congenital, etiology)
- Female
- Humans
- Infant
- Male
- Muscle Hypotonia
(congenital, etiology)
- Seizures
(congenital, etiology)
- Siblings
- Exome Sequencing
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