Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and ?prehensile? halluces: A new syndrome?

Day‐Salvatore, Debra; McLean, Dianne L.

doi:10.1002/(sici)1096-8628(19981204)80:4<309::aid-ajmg2>3.0.co;2-j

Cited by 12 publications

(1 citation statement)

References 8 publications

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“…Detection of GFP expression in t. choroidea depends on timing of initiation of expression of genes tagged by transposon insertion [ 30 ] such as, sulf1 encoding Sulfatase 1, which modulates signaling by heparin-binding growth factors, including FGF2 [ 20 , 47 ]. Sulf1 deficiency has been linked to microcephaly and cerebral dysfunction [ 21 ]. The patterns of GFP expression revealed by conventional confocal microscopy probably illustrate molecular events taking place somewhat earlier.…”

Section: Introductionmentioning

confidence: 99%

Development of brain ventricular system

Korzh

2017

Cell. Mol. Life Sci.

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The brain ventricular system (BVS) consists of brain ventricles and channels connecting ventricles filled with cerebrospinal fluid (CSF). The disturbance of CSF flow has been linked to neurodegenerative disease including hydrocephalus, which manifests itself as an abnormal expansion of BVS. This relatively common developmental disorder has been observed in human and domesticated animals and linked to functional deficiency of various cells lineages facing BVS, including the choroid plexus or ependymal cells that generate CSF or the ciliated cells that cilia beating generates CSF flow. To understand the underlying causes of hydrocephalus, several animal models were developed, including rodents (mice, rat, and hamster) and zebrafish. At another side of a spectrum of BVS anomalies there is the “slit-ventricle” syndrome, which develops due to insufficient inflation of BVS. Recent advances in functional genetics of zebrafish brought to light novel genetic elements involved in development of BVS and circulation of CSF. This review aims to reveal common elements of morphologically different BVS of zebrafish as a typical representative of teleosts and other vertebrates and illustrate useful features of the zebrafish model for studies of BVS. Along this line, recent analyses of the two novel zebrafish mutants affecting different subunits of the potassium voltage-gated channels allowed to emphasize an important functional convergence of the evolutionarily conserved elements of protein transport essential for BVS development, which were revealed by the zebrafish and mouse studies.

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Section: Introductionmentioning

confidence: 99%

Development of brain ventricular system

Korzh

2017

Cell. Mol. Life Sci.

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Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Isidor

Hamel

Plasschaert

et al. 2009

American J of Med Genetics Pt A

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Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.

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A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome

Kohmoto

Naruto

Watanabe

et al. 2017

American J of Med Genetics Pt A

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Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array-based copy number analysis in an 11-year-old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590 Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE-1s (L1s)-mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS.

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Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and ?prehensile? halluces: A new syndrome?

Cited by 12 publications

References 8 publications

Development of brain ventricular system

Development of brain ventricular system

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome

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