What question did this study set out to answer?

Investigate novel mutations in SALL4 to evaluate whether acro-renal-ocular syndrome and Okihiro syndrome represent allelic disorders and characterize their expanded phenotypic spectrum.

July 30, 2004Journal of Medical GeneticsOpen Access

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

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Investigate novel mutations in SALL4 to evaluate whether acro-renal-ocular syndrome and Okihiro syndrome represent allelic disorders and characterize their expanded phenotypic spectrum.
Screened the SALL4 gene for pathogenic variants in individuals presenting with congenital anomalies characteristic of Okihiro and acro-renal-ocular syndromes.
Evaluated genotype-phenotype relationships across human zinc finger transcription factor genes including SALL1 and SALL4.
Identified novel pathogenic mutations in SALL4, establishing that acro-renal-ocular syndrome and Okihiro syndrome are allelic conditions arising from the same gene.
Expanded the clinical and phenotypic spectrum associated with disruptions in SALL4-encoded zinc finger transcription factors.

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Implication

Genetic analysis reveals novel SALL4 mutations in syndrome patients, indicating that acro-renal-ocular and Okihiro syndromes are allelic entities with an expanded clinical spectrum.

Cite This Study

Wiktor Borozdin (2004) studied this question.

synapsesocial.com/papers/6a8282781228d2aa8d21da22 https://doi.org/10.1136/jmg.2004.019505

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Implication

Genetic analysis reveals novel SALL4 mutations in syndrome patients, indicating that acro-renal-ocular and Okihiro syndromes are allelic entities with an expanded clinical spectrum.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Key Points

Discussion

Implication

Cite This Study

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Key Points

Discussion

Implication

Cite This Study

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