Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101838
Abstract: Mediator complex subunit 12 (MED12)-related disorders are recessive-X-linked intellectual disabilities present primarily in male patients. We came across a female patient with a heterozygous mutation (c.1249-1G > C) related to MED12-related syndrome. MED12 expression was significantly lower… read more here.
Keywords: related syndrome; complex subunit; mediator complex; pluripotent stem ... See more keywords
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
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DOI: 10.1038/s41439-020-00110-0
Abstract: NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient… read more here.
Keywords: syndrome hypertrophic; related syndrome; boy naa10; hypertrophic cardiomyopathy ... See more keywords
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006169
Abstract: We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia,… read more here.
Keywords: recessive lrp1; lrp1; corneal clouding; lrp1 related ... See more keywords
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
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DOI: 10.1111/cge.14222
Abstract: The Crumbs homolog‐2 (CRB2)‐related syndrome (CRBS‐RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha‐fetoprotein levels in maternal serum and amniotic fluid. CRB2‐related syndrome is caused by… read more here.
Keywords: pathogenic variants; syndrome; six new; related syndrome ... See more keywords
A Report on a Family with TMTC3-Related Syndrome and Review
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DOI: 10.1155/2020/7163038
Abstract: Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly… read more here.
Keywords: related syndrome; report family; tmtc3 related; family tmtc3 ... See more keywords
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
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DOI: 10.1212/nxg.0000000000200049
Abstract: Background and Objectives Heterozygous mutations or deletions of the EBF3 gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia; the latter is quite common despite in… read more here.
Keywords: neuroradiologic features; ebf3 related; neurologic neuropsychologic; related syndrome ... See more keywords
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms
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DOI: 10.3390/ijms20174176
Abstract: Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or… read more here.
Keywords: deletions intragenic; related syndrome; genetics; foxg1 related ... See more keywords