Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort

Liu, Yan; Sun, Yang; Huo, Qiuyi; Song, Linghao; Wang, Xinyue; Shen, Xin; Zhao, Ye; Chen, Tianhui; Jiang, Yongxiang

doi:10.1186/s40246-025-00729-6

Human Genomics

Table 1 The spectrum of new mutations detected in this study

From: Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort

Gene	Heredity	Nucleotide	Amino Acid Change	Feature	Effect	ACMG
FBN1	AD	c.3244G > T	p.G1082C	New	Missense	Pathogenic
FBN1	AD	c.4211_4336dup	-	New*	Stop gain	Pathogenic
FBN1	AD	c.2419 + 1G > T	-	New	Splice variation	Likely Pathogenic
FBN1	AD	c.2168-1G > C	-	New*	Splice variation	Likely Pathogenic
FBN1	AD	c.5719 + 5G > A	-	New*	Frameshift insertion	Likely Pathogenic
FBN1	AD	c.4943_5422del	-	New*	Frameshift deletion	Pathogenic
FBN1	AD	c.3476G > T	p.C1159F	New	Missense	Pathogenic
FBN1	AD	c.1961_2113del	-	New	Frameshift deletion	Pathogenic
FBN1	AD	c.2659T > C	p.C887R	New	Missense	VUS
FBN1	AD	c.731G > T	p.C244F	New	Missense	VUS
LTBP2	AR	c.643G > A	p.G215R	New*	Missense	VUS
LTBP2	AR	c.3854G > A	p.C1285Y	New	Missense	VUS
LTBP2	AR	c.5392G > A	p.G1798S	New*	Missense	VUS
LTBP2	AR	c.2741delA	p.Y914Sfs*95	New*	Frameshift deletion	VUS
ADAMTS17	AR	c.2181_2182insGAAG	p.I728Efs*52	New	Frameshift insertion	Likely Pathogenic
ADAMTS17	AR	c.203_219del	p.P68Rfs*119	New	Frameshift deletion	Pathogenic
ADAMTSL4	AR	c.2488dupC	p.S832Qfs*5	New*	Frameshift insertion	Likely Pathogenic
COL4A5	AD	c.3940 C > T	p.P1314S	New*	Missense	VUS
SLC16A12	AD	c.977del	p.G326Efs*12	New	Frameshift deletion	Pathogenic
ASPH	AR	c.1126 C > T	p.R376X	New	Nonsense	Pathogenic
ASPH	AR	c.2075G > A	p.G692D	New	Missense	VUS
CBS	AR	c.407T > C	p.L136P	New*	Missense	Likely Pathogenic
CBS	AR	c.111del	p.A38Pfs*44	New	Frameshift deletion	Likely Pathogenic
CBS	AR	c.188 C > T	p.S63F	New	Missense	VUS
CBS	AR	c.457G > C	p.G153R	New*	Missense	VUS
CBS	AR	c.487_495del	p.Y163_C165del	New*	Frameshift deletion	VUS
CBS	AR	c.517_531del	p.M173_K177del	New*	In-frame deletion	Likely Pathogenic
CBS	AR	c.19dup	p.Q7Pfs*30	New	Frameshift deletion	Pathogenic

ACMG = American College of Medical Genetics and Genomics, AD = Autosomal dominant, AR = Autosomal recessive, VUS = variants of unknown significance. *New = has been reported by our group, New = has not been reported

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ISSN: 1479-7364

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