Oro-Facial-Digital Syndrome

Verma, Prashant Kumar; Bhat, Nowneet Kumar

doi:10.4103/ccd.ccd_754_20

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…The first case of OFDS was reported by Mohr in 1941. Until 17 types of OFDS have been reported 4. OFDS I is the most common type.…”

Section: Discussionmentioning

confidence: 99%

“…Hence, other variants of OFDS have to be ruled out. Differential diagnoses of Thurston syndrome are OFDS I (Papillon-League-Psaume syndrome), OFDS II-Mohr syndrome, OFDS III-Sugarman syndrome, OFDS IV-Baraitser-Burn syndrome and OFDS VI-Varadi-Papp syndrome 4 6 7. Management of oral manifestations of Thurston syndrome is conventional treatment modalities.…”

Section: Discussionmentioning

confidence: 99%

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Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation

KS,

Bansal,

Verma

et al. 2023

BMJ Case Rep

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A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents’ HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.

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“…The first case of OFDS was reported by Mohr in 1941. Until 17 types of OFDS have been reported 4. OFDS I is the most common type.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation

KS,

Bansal,

Verma

et al. 2023

BMJ Case Rep

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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Bruel

Ganga

Nosková

et al. 2023

Human Molecular Genetics

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Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over twenty genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families. Affected individuals presented a novel form of OFDS (OFDS-RAB34) accompanied by cardiac, cerebral, skeletal, and anorectal defects. RAB34 encodes a member of the Rab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Unlike many genes required for cilium assembly, RAB34 acts selectively in cell types that use the intracellular ciliogenesis pathway, in which nascent cilia begin to form in the cytoplasm. We find that the protein products of these pathogenic variants, which are clustered near the RAB34 C-terminus, exhibit a strong loss of function. Although some variants retain the ability to be recruited to the mother centriole, cells expressing mutant RAB34 exhibit a significant defect in cilium assembly. While many Rab proteins have been previously linked to ciliogenesis, our studies establish RAB34 as the first small GTPase involved in OFDS and reveal the distinct clinical manifestations caused by impairment of intracellular ciliogenesis.

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Oro-Facial-Digital Syndrome

Cited by 2 publications

References 7 publications

Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation

Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

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