A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report
Abstract
:1. Introduction
2. Case Presentation
2.1. Clinical Case
- −
- time 0′ glucose 99 mg/dL (reference value < 110) and insulin 19.5 IU/mL, range 2.6–24.9);
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- time 60′ glucose 172 mg/dL (reference value < 110) and insulin 19.6 IU/mL, range 2.6–24.9);
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- time 120′ glucose 152 mg/dL (reference value < 110) and insulin 21.1 IU/mL, range 2.6–24.9).
2.2. Family Screening
2.3. Genetic Testing
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Patient Identificative Code | Genetic Testing | Serum Calcium | Serum Phosphate | PTH | 25-(OH)-Vitamin D | 24h Urinary Excretions of Calcium | 24 h Urinary Excretions of Phosphate | Ultrasound Analysis of the Abdomen | Clinical History of Kidneys | DXA Scan |
---|---|---|---|---|---|---|---|---|---|---|
IIA (proband) | Positive for the p.Gly543Cys (SLC34A1) | Slightly elevated | Normal value | Slightly elevated | Deficiency assessed at 31 years old and insufficiency at 33 and 35 years old (normalized after 4 years of supplementation with calcifediol at 36 years old) | Slight hypercalciuria (normalized after therapy) | Hyperphosphaturia (normalized after therapy) | At 33 years old: Clear evidence of bilateral nephrolithiasis At 35 years old: Bilateral nephrolithiasis, and an increase in both the size and number of kidney stones | History of relapsing renal colic by the age of 22. Non-bilateral multiple nephrolithiasis, treated twice by surgery at the ages of 28 and 31 years. Persistence of nephrolithiasis after two surgeries. | At 31 years old: Z-score: −2.1 (L1-L4) −2.2 (femur neck) At 35 years old: Z-score: −2.4 (L1-L4) −1.7 (femur neck) |
IA (father) | Positive for the p.Gly543Cys (SLC34A1) | Normal value | Normal value | Normal value | Not reported | Normal value | Normal value | Not performed | No history of either altered kidney function or nephrolithiasis | Not performed |
IB (mother) | Negative for the p.Gly543Cys (SLC34A1) | Normal value | Normal value | Significantly increased | Insufficiency | Normal value | Normal value | At 58 years old: No sign of nephrolithiasis | No history of either altered kidney function or nephrolithiasis | Not performed |
IIB (brother) | Positive for the p.Gly543Cys (SLC34A1) | Normal value | Normal value | Normal value | Insufficiency | Slight hypercalciuria | Normal value | At 35 years old: Bilateral microlithiasis and a kidney stone measuring 5.5 mm in the right kidney | Recurrent (three) renal colic by the age of 30 years | Not performed |
IIC (brother) | Negative for the p.Gly543Cys (SLC34A1) | Normal value | Normal value | Normal value | Not reported | Normal value | Normal value | At 28 years old: No sign of nephrolithiasis | No history of either altered kidney function or nephrolithiasis | At 31 years old: Z-score: −0.6 (total body) |
Nucleotide Change (Ref. Sequence NM_003052.5) | Amino Acid Change (Ref. Sequence NP_003043.3) | Amino Acid Change Score (Grantham Matrix) | Mutation Taster 2 | PolyPhen-2 | SIFT |
---|---|---|---|---|---|
c.1627G>T (g.18759G>T) | p.Gly543Cys (G543C) | 159 | Disease-causing | Probably damaging | 0.01 |
Species | GeneBank Protein ID | Amino Acids | Amino Acid Sequence | ||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Homo sapiens (Human) | AAA36354.1 | 639 | I | S | M | A | G | W | Q | V | M | V | G | V | G | T | P | F | G | A | L | L | A |
Rattus norvegicus (Rat) | AAC37608.1 | 637 | I | S | M | A | G | W | Q | A | M | V | G | V | G | T | P | F | G | A | L | L | A |
Mus musculus (Mouse) | AAC42026.1 | 637 | I | S | M | A | G | W | Q | A | M | V | G | V | G | T | P | F | G | A | L | L | A |
Oryctolagus cuniculus (Rabbit) | AAA77682.1 | 642 | I | S | M | A | G | W | R | A | M | V | G | V | G | A | P | F | G | A | L | L | A |
Ovis aries (Sheep) | CAA04715.1 | 639 | L | S | M | A | G | W | R | A | M | G | G | V | G | A | P | F | G | A | L | L | A |
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Giusti, F.; Marini, F.; Al-alwani, H.; Marasco, E.; Garagnani, P.; Khan, A.A.; Brandi, M.L. A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report. Int. J. Mol. Sci. 2023, 24, 17289. https://doi.org/10.3390/ijms242417289
Giusti F, Marini F, Al-alwani H, Marasco E, Garagnani P, Khan AA, Brandi ML. A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report. International Journal of Molecular Sciences. 2023; 24(24):17289. https://doi.org/10.3390/ijms242417289
Chicago/Turabian StyleGiusti, Francesca, Francesca Marini, Hatim Al-alwani, Elena Marasco, Paolo Garagnani, Aliya A. Khan, and Maria Luisa Brandi. 2023. "A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report" International Journal of Molecular Sciences 24, no. 24: 17289. https://doi.org/10.3390/ijms242417289