SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna

doi:10.1016/j.jobcr.2015.06.014

Cited by 4 publications

(3 citation statements)

References 20 publications

(19 reference statements)

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“…An initial screen of 70 unrelated isolated cleft palate patients (including 23 patients with Pierre Robin sequence) found no pathogenic SATB2 mutations [FitzPatrick et al, ]. Similarly, targeted testing or full sequencing of SATB2 failed to reveal mutations in a combined population of over 350 patients with nonsyndromic cleft lip with or without cleft palate [Vieira et al, ; Gurramkonda et al, ]. The presence of other phenotypic features in addition to orofacial clefts is likely to increase the detection yield when looking for SATB2 alterations.…”

Section: Clinical Datamentioning

confidence: 99%

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Zárate

Fish

2016

American J of Med Genetics Pt A

123

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The SATB2‐associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2‐associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

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Section: Clinical Datamentioning

confidence: 99%

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Zárate

Fish

2016

American J of Med Genetics Pt A

123

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“…Mossey et al performed a study to investigate geneenvironment and gene joint effects, in a large multicenter study of case-parent triads, and found that the rs1348813 polymorphism of the SATB2 gene does not contribute to NSCP in European populations (17). Gurramkonda et al (29) performed a study to detect the role of rs137853127, rs200074373 and rs1992950 polymorphism of the SATB2 gene in 173 patients with NSCP and 176 normal controls, and reported that SATB2 gene variations do not contribute to the development of NSCP in the south Indian population. Similar conclusions have been reached in a study of southeast Asian populations (Malaysia, Taiwan and Singapore); Beaty et al showed there is no correlation between the SATB2 gene and cleft palate (30).…”

Section: Discussionmentioning

confidence: 99%

Association between SATB2 gene polymorphism and cleft palate only risk in eastern Guangdong population and a meta-analysis

Zhang

Tan

Xing

et al. 2018

Cell Mol Biol (Noisy-le-grand)

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To characterize the associations between the cleft palate (CPO) and single nucleotide polymorphisms (SNPs) of special AT-rich sequence-binding protein 2 (SATB2). We recruited 241 CPO and performed a case-control study with 242 controls. Concurrently, 103 of the patients and their normal parents were recruited to perform a case-parent trio study. Sixteen selected SNPs were genotyped. Furthermore, A meta-analysis was used to enhance the robustness of our conclusions. The case-control study provided no support for the hypothesis that any of the 16 selected SNPs played a significant role in CPO. In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. The 16 selected SNPs do not contribute to the development of CPO.

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“…Numerous studies have documented the genotype, natural history, and phenotypic characteristics associated with SATB2-associated syndrome (SAS). 1–21 Although the presence of cleft palate is one of the most cited features associated with SAS - palate anomalies in individuals with SAS include cleft palate (40%), a high-arched palate (25%), and bifid uvula (3%) - less is known about the speech consequences related to velopharyngeal insufficiency (VPI), the possibility of non-cleft VPI, and surgical treatment in this population. 2,22 Non-cleft VPI, the presence of hypernasality and/or nasal emission with a normal-appearing palate, occurs in approximately 10% of individuals with SAS.…”

Section: Introductionmentioning

confidence: 99%

VPI Management in SATB2 Syndrome: Use of MRI to Evaluate Anatomy and Physiology in Non-Cleft VPI

Perry

Williams

Snodgrass

et al. 2022

The Cleft Palate Craniofacial Journal

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This clinical case study describes the velopharyngeal anatomy and physiology in a patient who presented with SATB2-associated syndrome (SAS) and velopharyngeal insufficiency (VPI) in the absence of an overt cleft palate. The clinical presentation, treatment, outcome, and the contribution of anatomical findings from MRI to surgical treatment planning for this rare genetic disorder, SAS, are described. This case study contributes to our current understanding of the anatomy and physiology of the velopharyngeal mechanism in an individual born with SAS and non-cleft VPI. It also details the changes following bilateral buccal myomucosal flaps in this patient.

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SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

Cited by 4 publications

References 20 publications

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Association between SATB2 gene polymorphism and cleft palate only risk in eastern Guangdong population and a meta-analysis

VPI Management in SATB2 Syndrome: Use of MRI to Evaluate Anatomy and Physiology in Non-Cleft VPI

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