Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a continuous spectrum. Fatal infantile encephalopathy was observed in one family, whereas another patient presented at 27 years with acute leukoencephalopathy and recovered within 3 months. Intermediate forms presenting as complicated hereditary spastic paraparesis of variable severity were observed in four subjects. Clinical and molecular information of t...
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients
This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were var...
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Two novel variants and follow-up findings in four children with Bloom syndrome from two families
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?
We describe the case of a patient with a clinical and molecular diagnosis of Beckwith-Wiedemann Syndrome (BWS) and a clinical, radiologic and histologic diagnosis of colon isolated hypoganglionosis. BWS is a genetic multisystem disorder characterized by generalized and lateralized overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia and predisposition to embryonal tumors (Brioude et al., Nat Rev Endocrinol 1998; 14:229–249). Hypoganglionosis of the colon is a condition that clinically resembles Hirschsprung’s disease and it is part of a group of numerous and heterogeneous conditions that are defined ...
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation
This report confirms DNAJC3 as a cause of syndromic congenital hyperinsulinaemic hypoglycaemia. Currently, PanelApp only includes this gene on diabetes mellitus panels. We propose DNAJC3 should be promoted from a red to a green gene on a wider number of panels to improve the diagnosis of this rare condition. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature
We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic seizures followed by neuroregression and an abnormal electroencephalogram. We identified two novel missense variants, c.458G>C p.(Arg153Pro) and c.205C>G p.(Leu69Val) and one known disease-causing variant, c.280C>T p.(Arg94Trp) in KCTD7 by exome sequencing. We review the literature of 67 individuals with variants in KCTD7. Our study expands the molecular spectrum of KCTD7-related progressive myoclonic epilepsy. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. Here, we report clinical and molecular characteristics of two Chinese MCPH5 patients, a 24-year-old woman proband and her brother, a 19-year-old man, from a nonconsanguineous family. Main manifestations in the proband were small head circumference, premature closure of fontanelles, impaired concentration and moderate intellectual disability. The proband’s brother had similar symp...
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
