Cornea · 2021
Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ramappa Muralidhar, Gandhi Uppal, Chaurasia Sunita, Kabra Meha, Kaur Inderjeet, Mittal Ruchi, Mishra Dilip Kumar, Chakrabarti Subhabrata, Edward Deepak P
Аннотация
PURPOSE: The purpose of this study was to report the clinicopathological features of Peters anomaly in a child with nail-patella syndrome.
METHODS: Nail-patella syndrome (NPS) is a rare autosomal dominant connective tissue disorder characterized by several anomalies of the extremities, joints and nails, glomerulopathy, and rarely ocular involvement. NPS is caused by heterozygous loss-of-functional mutations in the LMX1B gene that encodes the LIM homeodomain proteins.
RESULTS: This case reports a new association of Peters anomaly in a child with NPS that also had classic skeletal/nail anomalies and protein losing nephropathy. Furthermore, DNA sequence analysis identified a novel missense heterozygous mutation in the LMX1B gene (Transcript ID: NM_001174146) resulting in the replacement of tryptophan by serine in codon 266, suggesting that the mutation (p.Trp.266Ser) affects LMX1B function by disturbing its interactions with other proteins. To the best of our knowledge, this association of Peters anomaly is novel and has not been reported earlier in the ophthalmic and systemic literature on NPS.
CONCLUSION: The corneal findings in our case with NPS are similar to those seen in congenital corneal opacification because of Peters anomaly. This novel association of Peters anomaly with NPS may be related to the effects of the LMX1B mutation on corneal development.
METHODS: Nail-patella syndrome (NPS) is a rare autosomal dominant connective tissue disorder characterized by several anomalies of the extremities, joints and nails, glomerulopathy, and rarely ocular involvement. NPS is caused by heterozygous loss-of-functional mutations in the LMX1B gene that encodes the LIM homeodomain proteins.
RESULTS: This case reports a new association of Peters anomaly in a child with NPS that also had classic skeletal/nail anomalies and protein losing nephropathy. Furthermore, DNA sequence analysis identified a novel missense heterozygous mutation in the LMX1B gene (Transcript ID: NM_001174146) resulting in the replacement of tryptophan by serine in codon 266, suggesting that the mutation (p.Trp.266Ser) affects LMX1B function by disturbing its interactions with other proteins. To the best of our knowledge, this association of Peters anomaly is novel and has not been reported earlier in the ophthalmic and systemic literature on NPS.
CONCLUSION: The corneal findings in our case with NPS are similar to those seen in congenital corneal opacification because of Peters anomaly. This novel association of Peters anomaly with NPS may be related to the effects of the LMX1B mutation on corneal development.