SBDS Ribosome Maturation Factor

Alternative Names

SBDS
SBDS Gene

Length

7,907 bases

No. of Exons

No. of isoforms

Protein Name

Ribosome maturation protein SBDS

Molecular Mass

28764 Da

Amino Acid Count

250

Genomic Location

chr7:66,987,679-66,995,585

Gene Map Locus

7q11.21

Description

The SBDS gene encodes a protein that is highly conserved from archaea to vertebrates and plants. While the function of the SBDS protein has not been fully elucidated, it is believed to be involved in mature ribosome assembly, mitotic spindle organization and rRNA processing. The protein may also play a role in cell proliferation, cellular stress resistance and cellular response to DNA damage.

Mutations in the SBDS gene result in Shwachman-Diamond Syndrome (SDS), a disorder characterized by exocrine pancreatic insufficiency, skeletal defects including delayed skeletal maturation and metaphyseal chondrodysplasia of long bones, and hematological abnormalities such as anemia, thrombocytopenia and an increased risk of malignant transformation.

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016038.4:c.258+2T>C	Saudi Arabia	NC_000007.14:g.66994210A>G	Likely Pathogenic, Pathogenic, Risk factor	Likely Pathogenic	Shwachman-Diamond Syndrome 1	NG_007277.1:g.6392T>C; NM_016038.4:c.258+2T>C	113993993	3196

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Other Reports

Saudi Arabia

Anazi et al. (2016) analysed the diagnostic yield of genomic tools compared to standard clinical evaluations in a cohort of 337 Intellectual Disability (ID) patients. By using molecular karyotyping, exome sequencing and sequencing by a neurological gene panel, the authors were able to diagnose 58% of the ID cases, while clinical evaluations helped diagnose only 16% of the cases. In one patient, the analysis helped uncover a homozygous mutation in the SBDS gene (c.258+2T>C). However, it was noted that the patient suffered from symptoms not typically associated with the SDS phenotype, such as developmental delay, microcephaly and a lack of skeletal, haematological or gastrointestinal features.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBDS https://medlineplus.gov/genetics/gene/sbds/

Contributors

Asha Deepthi: 15.02.2022
Sayeeda Hana: 18.01.2017

Edit History

Asha Deepthi: 15.02.2022
Sami Bizzari: 17.05.2017

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