Open Access

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy

  • Authors:
    • Bobo Xie
    • Xin Fan
    • Yaqin Lei
    • Shang Yi
    • Qi Yang
    • Jin Wang
    • Zailong Qin
    • Fei Shen
    • Jingsi Luo
    • Yiping Shen
  • View Affiliations

  • Published online on: March 23, 2020     https://doi.org/10.3892/mmr.2020.11036
  • Pages: 2296-2302
  • Copyright: © Xie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Congenital generalized lipodystrophy (CGL) is a clinically and genetically heterogeneous condition with autosomal recessive inheritance. CGL is classified into four subtypes on the basis of causative genes. This study reported on a 2‑month‑old male infant diagnosed with CGL with generalized lipoatrophy and skin hyperpigmentation. Whole exome sequencing (WES) identified a heterozygous small insertion (c.545_546insCCG) in Berardinelli‑Seip congenital lipodystrophy 2 (BSCL2) that was inherited from the infant's mother. Copy number variation analysis using exome data suggested a heterozygous deletion involving exon 3 that was inherited from the infant's father. This finding was confirmed by multiplex ligation‑dependent probe amplification test. Gap‑PCR revealed breakpoints and confirmed a 1274 bp heterozygous deletion encompassing exon 3 of BSCL2 (c.213‑1081_c.294+111). This deletion is different from the founder 3.3 kb deletion involving exon 3 of BSCL2 in the Peruvian population. An 11‑bp microhomology at the breakpoints may mediate the deletion, and its presence indicates the independent origins of the exon 3 deletion between Chinese and Peruvian populations. The present results expanded the mutational spectrum of the BSCL2 gene in the Chinese population and suggested that introns 2 and 3 of BSCL2 are prone to recombination. Thus, exon 3 deletion should be considered for patients with CGL2 when only one BSCL2 variant is detected through WES.
View Figures
View References

Related Articles

Journal Cover

June-2020
Volume 21 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Xie B, Fan X, Lei Y, Yi S, Yang Q, Wang J, Qin Z, Shen F, Luo J, Shen Y, Shen Y, et al: Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy. Mol Med Rep 21: 2296-2302, 2020
APA
Xie, B., Fan, X., Lei, Y., Yi, S., Yang, Q., Wang, J. ... Shen, Y. (2020). Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy. Molecular Medicine Reports, 21, 2296-2302. https://doi.org/10.3892/mmr.2020.11036
MLA
Xie, B., Fan, X., Lei, Y., Yi, S., Yang, Q., Wang, J., Qin, Z., Shen, F., Luo, J., Shen, Y."Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy". Molecular Medicine Reports 21.6 (2020): 2296-2302.
Chicago
Xie, B., Fan, X., Lei, Y., Yi, S., Yang, Q., Wang, J., Qin, Z., Shen, F., Luo, J., Shen, Y."Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy". Molecular Medicine Reports 21, no. 6 (2020): 2296-2302. https://doi.org/10.3892/mmr.2020.11036