Skip to main content
. 2024 Jun 26;15:1356870. doi: 10.3389/fendo.2024.1356870

Table 4.

Mutations in patients with PPNAD.

No. Gene Region Mutation Amino acid Mutation type Somatic/Germline Author
1 PRKACA chr19p13.2p12 Copy duplication Somatic Xu Yuying (8), 2023
2 PRKACA c.95A>T Wan Shuang (9), 2022
3 PRKAR1A c.709-16(IVS7)_c.709-11(IVS7)del TTATTT
4 PRKAR1A c.491_492delTG p.Val164fsX4 Germline Yuya Tsurutani (10), 2022
5 PDE11A Exon 11 c.1921A>G p.Lys641Glu Missense Qian Sun (11), 2022
6 PRKAR1A Exon 6 c.543_544del p.Glu181Aspfs*6 Protein-truncating Sofia H. Ferreira (12), 2019
8 PRKAR1A c.487–488delAC Andreas Kiriakopoulos (13), 2018
9 PRKAR1A Intron 3 c.349−5_349−4insT J. Fu (14), 2018
Intron 4a c.440 + 5 G>C Deletion of exon 4a
Intron 6 c.708 + 134_708 + 135insCT
Intron 7 c.770−24G>A
Intron 8 c.892–34G>T
10 PRKAR1A Exon 5 c.502G > A p.168Gly>Ser Lan Ling (15), 2017
PDE11A Exon 20 c.2763_2764insTCC p.Ser921_Pro922insSer
11 PRKAR1A c.671delG p.G225Afs*16 Frame shift Laura C. Hern´andez-Ram´ırez (16), 2017
12 PRKAR1A del184–237 Delphine Vezzosi (17), 2015
13 PRKAR1A c.709 (-8–3)delATTTTT
14 PRKAR1A c.502 + 1G>A
15 PRKAR1A c.63_64CG>GA
16 PRKAR1A c.46C>T p.R16X Germline Shih-Chen Tung (18), 2012
17 PRKAR1A Exon 2 c.95_96delAA p.Lys32Argfs*12 Frame shift Emilie Morin (19), 2012
18 PRKAR1A Intron 3 c.349 G>T Frame shift Helen L. Storr (20), 2010
19 PRKAR1A Exon 2 (A29A)CGG→GCA Christian Urban (21), 2007
Exon 3 c.286C>T R96X Nonsense
Intron 7 c.769 + 524G>T
Intron 7 c.770–24A>G
Intron 9 c.974–102A>T
20 PRKAR1A c.682C>T p.Arg228Ter Germline Crystal D. C. Kamilaris (22), 2021
c.974–2A>G
21 PRKAR1A c.488delC p.Thr163MetfsX2 Frame shift Catherine D Zhang (23), 2019
22 PRKAR1A c.709 (-7–2) del6 Aglaia Kyrilli (24), 2019
23 PRKAR1A c.46C>T p.Arg16X Amit Tirosh (25), 2017
24 PRKAR1A c.101_105delCTATT p.Ser34fsX9
25 PRKAR1A c.496C>T p.Gln166X
26 PRKAR1A c. 491–492delTG p.Val164AspfsX5
27 PRKAR1A c.125dupG Katarzyna Pasternak-Pietrzak (26), 2018
28 PRKAR1A c.15dupT
29 PRKAR1A Intron 7 c.709–7_709–2del6 Constanza Navarro Moreno (3), 2018
30 PRKAR1A c.1A>G p.Met1Val
31 PRKAR1A Intron 7 c.709–7_709–2del6
32 PRKAR1A g.114213T>G Sira Korpaisarn (27), 2017
c.709–5T>G
34 PRKAR1A c.49G>T p.E17X Ryohei Mineo (28), 2016
35 PRKAR1A Exon 3 243–252ACTCGTAGAGdel Frame shift Germline R. M. G. da Silva (29), 2011
36 PRKAR1A Exon 8 c.709(-7–2)del6 deletion Thekla Poukoulidou (30), 2014
37 PRKAR1A Q28X Protein-truncating Johannes Hofland (31), 2013
38 PRKAR1A c.439A>G p.S147G Germline J. Anselmo (32), 2012
39 PRKAR1A Intron 2 c.177 + 3 A>G Marcia C. Peck (33), 2010
40 PRKAR1A c.693insT p.Arg232X Germline Mimi Tadjine (34), 2008
41 PRKAR1A c.1 A > G p.Met1Val Germline
42 PRKAR1A c.101–105delCTATT p.Ser34fsX9 Germline
43 PDE11A 171delTfs41X Germline
44 PRKAR1A c.891 + 3 A > G Germline
45 PRKAR1A c.438 A > T p.Arg146Ser Germline
46 PRKAR1A c.682C > T p.Arg228X Germline
47 PRKAR1A c.709-(5–107) del103 Germline
CRNNB1 T41A Somatic
48 CRNNB1 S45P Somatic
49 PRKAR1A c.502 + 5delG Germline
50 PRKAR1A c.491–492delTG p.Val164fsX4 Germline
51 PRKAR1A IVS1–2 A>G Paul Byron Bandelin (35), 2008
52 PRKAR1A Exon 2 p. Y21X Codon stop Germline Madson Q. Almeida (36), 2008
53 PDE8B c.914A>C p.His305Pro Anelia Horvath (37), 2008
54 PDE11A R804H Anelia Horvath (38), 2006
55 PRKAR1A Exon 8 IVS+3G>A Isabelle Bourdeau (39), 2003
56 PRKAR1A 88A>G
57 PRKAR1A 211 C>T
58 PRKAR1A Exon 1B 102 G>A Cryptic splice site, partial exon skipping Germline Lionel Groussin (40), 2002
Exon 4B IVS del (-17→-2) Exon skipping
59 PRKAR1A Exon 8 933 ins A Frame shift Germline
60 PRKAR1A Exon 2 196 C>T Stop codon Germline
61 PRKAR1A Exon 7 IVS del (-7→-2) Exon skipping Germline
62 PRKAR1A Exon 2 172 del 11 bp Frame shift Germline
63 PRKAR1A Exon 5 c.503G>T p.Gly168Val Germline Haremaru Kubo (41), 2022
64 PDE11A (919C)→(R307X) J. Aidan Carney (42), 2010
65 PDE11A 1655_1657delTCT/insCCfs15X
66 PRKAR1A c.974–1G>A Rossella Libè (43), 2010
PDE11A c.2618T>C I873T Missense
67 PRKAR1A c.502 + 1G>A
PDE11A c.2599C>G R867G Missense
68 PRKAR1A c.1083delA
PDE11A c.2180A>G Y727C Missense
69 PRKAR1A c.491–492delTG
PDE11A c.171Tdel T58PfsX41 Codon stop
70 PRKAR1A c.891 + 3A>G
PDE11A c.2599C>G R867G Missense
71 PRKAR1A c.528–531delGATTins11
PDE11A c.2632A>G M878V Missense
72 PRKAR1A c.682C>T
PDE11A c.2599C>G R867G Missense
73 PRKAR1A c.769 + 5G>C
PDE11A c.1045G>A A349T Missense
74 PRKAR1A c.709(-7–2)del6
PDE11A c.919C>T R307X Codon stop
75 PRKAR1A c.709(-7–2)del6
PDE11A c.2411G>A R804H Missense
76 PRKAR1A c.709(-7–2)del6
PDE11A c.2180A>G Y727C Missense
77 PRKAR1A c.891 + 3A>G
PDE11A c.2632A>G M878V Missense
78 PRKAR1A c.763–764delAT
PDE11A c.2180A>G Y727C Missense
79 PRKAR1A c.550(-9–2)del8
PDE11A c.2411G>A R804H Missense
80 PRKAR1A c.845–846 ins A
PDE11A c.2411G>A R804H Missense
81 PRKAR1A c.709(-5–107)del 103
PDE11A c.2180A>G Y727C Missense
82 PRKAR1A c.709(-7–2)del6
PDE11A c.1142G>T E382X Codon stop
83 PRKAR1A c.279–282delTAGG
PDE11A c.2180A>G Y727C Missense
84 PRKAR1A c.440 + 1G>A
PDE11A c.171Tdel T58PfsX41 Codon stop
85 PRKAR1A c.865 G>T
PDE11A c.2180A>G Y727C Missense
86 PRKAR1A c.491–492delTG
PDE11A c.2411G>A R804H Missense
87 PRKAR1A c.738T>G
PDE11A c.824C>A S275X Codon stop
88 PRKAR1A c.353–365del13
PDE11A c.2180A>G Y727C Missense
89 PRKAR1A c.709(-7–2)del6
PDE11A c.652C>T L218F Missense
90 PRKAR1A c.502 + 1G>A
PDE11A c.2180A>G Y727C Missense
91 PRKAR1A c.43–58del16
PDE11A c.2632A>G M878V Missense
92 PRKAR1A c.491–492delTG
PDE11A c.2180A>G Y727C Missense
93 PRKAR1A c.642dupT p.Val215CysfsX18 Codon stop Ali A. Ghazi (44), 2021
94 PRKAR1A Exon 2 c.171–172insT p.L57FfsX70 Safak Akin (45), 2017
95 PRKAR1A Exon 2 C18G Missense Ran Hui (46), 2014
96 PRKAR1A Exons 4A and 4B S147N Gu Yan-yun (47), 2004
97 ARMC5 c.1606C>G p.P536A Nonsense Zhu Mingqiang (48), 2021
99 PRKAR1A c.753 del AT Patricia de Cremoux (49), 2008
100 PRKAR1A c.846 ins A
101 PRKAR1A c.502C+1 G>T
102 PRKAR1A c.708C+1 G>T
103 PRKAR1A c.109 C>T