Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. This article reports a boy who presented with developmental delay, facial dysmorphism, microcephaly, hypotonia, and areflexia. He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. However, severe mental impairment was atypical of Charcot Marie Tooth disease type 1A. Over the next few years he developed characteristic breathing abnormality, hand stereotypies, seizures, and marked constipation. The evolution of these manifestations coupled with the characteristic facial appearance suggested the additional diagnosis of Pitt-Hopkins syndrome, which was confirmed by the genetic defect of the transcription factor 4 on chromosome 18. This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual.
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PMID:Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. 2237 61

PTEN gene (phosphatase and tensin homolog deleted on chromosome ten, MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus-like syndrome. PTEN mutations have been more recently reported in children with macrocephaly and autism spectrum disorders or mental retardation, without other symptoms of PHTS. Although tumor risk has not been evaluated in these patients and their relatives, the same surveillance as for Cowden syndrome is usually proposed. We report a family including patients carrying a novel PTEN mutation and presenting with a mild phenotype consisting of macrocephaly, hypotonia during the first year of life and mild learning disabilities, without autistic features. None of these patients exhibited PTHS-related symptoms such as tumors, lipomas, vascular malformations or pigmented macules of the glans penis. This report raises the question of extending the indications of PTEN mutation screening to familial macrocephaly with learning disabilities. Detection of a mutation in this family led to difficult questions about surveillance, genetic counseling and familial information since the mother declined tumor screening and disclosure of genetic risk information to at-risk relatives.
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PMID:Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 2312 40